Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3287T>G

cDNA Name	c.3287T>G
Protein Name	p.Leu1096Arg
Exon or Intron	exon 20
Legacy Exon or Intron	exon 17b
Legacy Name	L1096R
Other Details	This variation was found by DGGE and identified by DNA sequencing in a non-affected young woman from Southern France. This possible mutation doesn't modify any restriction site.
Contributors	Claustres M, Guittard C 1998-12-08
Institute	Institut de Biologie Montpellier
Submitted Phenotype Details	This individual is NOT a CF patient. No other mutation was found. (Pers. corr. Claustres)
Reference	Claustres & Guittard 1998

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. 2000 002;106(2):172-8

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The Database was last updated at Apr 25, 2011